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Biomedical subjects

G Segni

Publications and source records attributed to G Segni.

65 records · Page 4Linked to original sources
PubMedDate not supplied

Pilot study for congenital hypothyroidism, preliminary report.

Preliminary results of a pilot study on congenital hypothyroidism performed on 8,025 newborns in Italy over a 10-month period are reported. The determination of both T4 and TSH on dried blood, spotted on filter paper, as screening procedure at day 3-5 of life revealed three cases of primary hypothyroidism and one case of hypo-thyroxin-binding-globulinemia (hypo-TBG-emia). The diagnosis of primary hypothyroidism was established on the basis of low T4 and high TSH levels in two of the three cases; in the third, with elevated TSH and normal T4 levels at screening, thyroid scintiscan showed an ectopic gland located at the base of the tongue. In the case of hypo-TBG-emia, low T4 and TBG levels were associated with normal TSH values. Some cases of transient hypothyroidism were observed in premature infants.

Congenital Hypothyroidism↗
PubMedDate not supplied

Early reactive neutrophil changes in an infant with Kawasaki syndrome.

An infant with Kawasaki syndrome presenting with fever, rash, and a high percentage of neutrophils with toxic granulation is reported. The peripheral blood smears of the patient showed a high proportion of neutrophils with marked vacuoles and toxic granulations. The reactive changes in neutrophils could be helpful in the early detection of the disease, especially in infants younger than 6 months of age who are at high risk for development of coronary artery disease.

Diagnosis, Differential↗
PubMedDate not supplied

Drug addiction in pregnancy: 13 years of experience.

In this retrospective study, we review our data on 203 drug-addicted pregnant patients, considering two different aspects of the question: maternal and fetal. We report the findings relative to maternal metabolic, endocrinological, neuroendocrinological and immunological studies performed in our department over the past 13 years. Moreover, we study fetal involvement in drug-addicted pregnancy and report the findings of our fetal behavior and urodynamic studies. The last section of this study deals with perinatal outcome. In particular, we report a high incidence of small-for-gestational-age fetuses and premature deliveries.

Adult↗
PubMedDate not supplied

Occurrence of anti-thyroid autoantibodies in children vertically infected with HIV-1.

Autoimmune phenomena, especially occurrence of non organ-specific autoantibodies, are common in congenitally acquired HIV infection, mostly in the symptomatic stages of the disease. Anti-thyroid autoantibodies detected in adult patients represent the only type of organ-specific autoantibodies reported in HIV infection. As far as we know, occurrence of these autoantibodies has not been observed in HIV infected children. In this study thyroid biochemical pattern and possible occurrence of anti-thyroid autoantibodies were investigated in 40 vertically HIV infected, 18 seroreverted and 22 healthy children. 34% of HIV infected symptomatic children showed anti-thyroglobulin antibodies. Asymptomatic patients, seroreverted and healthy controls did not show any anti-thyroid antibodies at the time of the study. High Tg levels were observed in 38% of the 40 HIV infected patients and high TSH concentrations were found in 27.5% of the HIV children. High TSH values were more frequently observed in the infected children with moderate or severe immunocompromised status. Thyroxine binding globulin levels were high in 68% of the HIV children and in 22% of the seroreverted. The finding of anti-thyroid autoantibodies in congenital HIV infected children confirms the thyroid's involvement in HIV infection and provides more information about the wide spectrum of autoimmune phenomena observed in the infection.

Autoantibodies↗
PubMedDate not supplied

Cervical myelopathy in mucopolysaccharidosis type IV.

We describe our experience with 8 Italian patients having mucopolysaccharidosis type IV, diagnosed between 1 and 10 years of life, who presented odontoid hypoplasia causing cervical myelopathy. We discuss the possibility of cranio-cervical stabilization in order to reduce the neurological complications.

Age of Onset↗
PubMedDate not supplied

Anterior sacral meningocele in a patient with Marfan syndrome.

Anterior sacral meningocele has been reported to be associated with Marfan syndrome (MFS) in few cases, differently from dural ectasia appearing up to two thirds of affected patients. A new instance of this association is described in an 18-year-old man with Marfan syndrome, diagnosed upon MRI morphological evaluation which showed a huge cystic mass in the pelvic space. Surgical excision even if curative was not performed in consideration of a stationary picture after one year since diagnosis.

Adolescent↗
PubMedDate not supplied

[Congenital dysplasia of the hip. Preliminary results of a longitudinal study in the first 6 months of life].

The authors report their experience of a serial follow-up for congenital dysplasia of the hip (CDH). 699 babies born during a three-months period were examined on their first day of life, on the forth and at the age of 1 and 6 months. 2 dislocated hips, 222 clicking hips were discovered in the neonatal period. At the first month 1 dislocated hip and only 6 clicking hips were detected. At the sixth month all babies were normal with the exception of two clicking hips. X-ray examination confirmed clinical dislocation diagnosis and showed pathological signs (subluxation and acetabular dysplasia) also in normal and clicking hips. According to their results the authors suggest that clinical examination during the first 6 months of life and X-ray can decrease the incidence of late diagnosis of CDH.

Female↗